Canonical Allele Identifier: CA129035

Gene: OSMR

Linked Data

• ClinVar Variation Id: 30220
• ClinVar RCV Id: RCV000023143
• dbSNP Id: rs387906821
• MyVariant Identifiers: chr5:g.38924593A>T (hg19) ; chr5:g.38924491A>T (hg38)
• PubMed: PMID:19690585

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.38924491A>T , CM000667.2:g.38924491A>T	GRCh38
NC_000005.9:g.38924593A>T , CM000667.1:g.38924593A>T	GRCh37
NC_000005.8:g.38960350A>T	NCBI36
NG_016236.1:g.83634A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274276.8:c.1940A>T MANE Select	ENSP00000274276.3:p.Asp647Val
ENST00000274276.7:c.1940A>T	ENSP00000274276.3:p.Asp647Val
NM_003999.2:c.1940A>T	NP_003990.1:p.Asp647Val
XM_005248384.1:c.1943A>T	XP_005248441.1:p.Asp648Val
XM_005248385.1:c.1943A>T	XP_005248442.1:p.Asp648Val
XM_011514161.1:c.1943A>T	XP_011512463.1:p.Asp648Val
XR_925661.1:n.2332A>T
NM_001323505.1:c.1940A>T	NP_001310434.1:p.Asp647Val
NM_001323506.1:c.1943A>T	NP_001310435.1:p.Asp648Val
XM_011514161.2:c.1943A>T	XP_011512463.1:p.Asp648Val
XM_017010019.1:c.1940A>T	XP_016865508.1:p.Asp647Val
NM_003999.3:c.1940A>T MANE Select	NP_003990.1:p.Asp647Val
NM_001323505.2:c.1940A>T	NP_001310434.1:p.Asp647Val
NM_001323506.2:c.1943A>T	NP_001310435.1:p.Asp648Val